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Unified submission Portal for the GWAS and PGS Catalogs #260

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sprintell opened this issue Dec 18, 2024 · 0 comments
Open

Unified submission Portal for the GWAS and PGS Catalogs #260

sprintell opened this issue Dec 18, 2024 · 0 comments
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@sprintell
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sprintell commented Dec 18, 2024

Enabling authors to easily deposit their data in the PGS Catalog is a key aim and important to the long-term sustainability of the PGS Catalog.
The current submission process for the PGS Catalog is manual:

  • Authors download a curation template
  • Fill it out according to curation guidelines
  • Send the metadata template and formatted scoring files to [email protected].

The GWAS Catalog deposition portal allows users to deposit and then accession data, capturing metadata and summary statistics:

  • Structure of summary statistics submission files identical to PGS scoring files apart from file size,and different attributes
  • It'll also be of great benefit to cross-link the two resources
  • For instance: many authors submitting GWAS summary statistics are also submitting related PGS

GOAL: We want to leverage GWAS Catalog’s existing submission infrastructure to allow PGS Catalog metadata and scoring file submission.

Interaction Workflows and Diagrams

  1. PGS-GWAS-Data Submission Workflow
  2. PGS-GWAS-Data Submission Workflow-2
@sprintell sprintell added the Epic label Dec 18, 2024
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